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Propionic acidemia: a neuropathology case report and review of prior cases
Brady Feliz1, David R Witt, Brent T Harris
1Department of Pathology, Stanford University Hospital, Stanford, Calif, USA.
Insights
Propionic acidemia, a metabolic disorder, can cause severe neurological issues. This study highlights widespread gray matter vacuolization as a key neuropathologic finding, even in older children.
Area of Science:
- Biochemistry
- Neurology
- Metabolic Disorders
Background:
- Propionic acidemia is an inherited metabolic disorder affecting amino acid and fatty acid breakdown.
- It results from a defect in the propionyl-CoA carboxylase enzyme, leading to toxic metabolite accumulation.
- Clinical symptoms often manifest in infancy, including metabolic decompensation and neurological complications.
Observation:
- Neuropathologic findings in propionic acidemia are not fully understood.
- Previous studies noted white matter spongiosis in neonates.
- This report details widespread gray matter vacuolization in a 4-year-old patient.
Findings:
- The study describes neuropathologic findings in propionic acidemia, including a novel case of diffuse gray matter vacuolization.
- This finding, while previously unreported in propionic acidemia, is known in other fatty acid oxidation disorders.
- The neuropathology of propionic acidemia shows variability, particularly between neonates and older children.
Implications:
- Diffuse gray matter vacuolization may be a significant neuropathologic feature of propionic acidemia, particularly in later presentations.
- Understanding these neuropathologic changes is crucial for diagnosing and managing propionic acidemia.
- Further research into fatty acid metabolism disorders and their neurological impact is warranted.
Abstract:
Propionic acidemia is a disorder of branch-chain amino acid and odd-chain fatty acid metabolism. The clinical features typically begin shortly after birth, with rare cases presenting in young adulthood. This disorder most commonly is characterized by episodic decompensations with dehydration, lethargy, nausea, and vomiting as well as a risk for neurologic sequelae. The defect is in the propionyl-CoA carboxylase enzyme with a resultant accumulation of toxic organic acid metabolites. Neuropathologic findings in this inborn error of metabolism have not been extensively characterized but include white matter spongiosis in neonates and a variable appearance in older children. We describe the pertinent literature on the neuropathology of propionic acidemia and a case report of a 4-year-old girl who had widespread gray matter vacuolization at postmortem examination. Although a previously unreported finding in propionic acidemia, diffuse gray matter vacuolization has been described in other fatty acid metabolic disorders.